A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat

BACKGROUND: Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutations in the ALMS1 gene are associated with the development of Alstrom syndrome, a...

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Detalles Bibliográficos
Autores principales: Meurs, Kathryn M., Williams, Brian G., DeProspero, Dylan, Friedenberg, Steven G., Malarkey, David E., Ezzell, J. Ashley, Keene, Bruce W., Adin, Darcy B., DeFrancesco, Teresa C., Tou, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913409/
https://www.ncbi.nlm.nih.gov/pubmed/33639992
http://dx.doi.org/10.1186/s13023-021-01740-5

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